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A Japanese case of infantile sialic acid storage disease

✍ Scribed by Chizuko Nakano; Yoshio Hirabayashi; Kousaku Ohno; Tamami Yano; Takashi Mito; Minoru Sakurai


Book ID
116137371
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
716 KB
Volume
18
Category
Article
ISSN
0387-7604

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Clinical spectrum of infantile free sial
✍ Lemyre, Emmanuelle; Russo, Pierre; MelanοΏ½on, Serge B.; GagnοΏ½, R.; Potier, Michel πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 132 KB πŸ‘ 2 views

Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with differen